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Association analysis of CD40 gene polymorphism with acute coronary syndrome

Jinchuan Yan1, Cuiping Wang, Rongzeng Du

  • 1Department of Medicine, The Affiliated Hospital of Jiangsu University, 438 Jiefang Road, 212001, Zhenjiang, Jiangsu Province, People's Republic of China. yanjinchuan@hotmail.com

Clinical and Experimental Medicine
|February 4, 2010
PubMed

Insights

The CD40 gene (-1C/T) single nucleotide polymorphism (SNP) is linked to acute coronary syndrome (ACS) in Chinese individuals. Carriers of the -1C allele exhibit higher CD40 expression and an increased risk of developing ACS.

Area of Science:

  • Cardiovascular Genetics
  • Immunology
  • Molecular Biology

Background:

  • The CD40-CD40 ligand (CD40-CD40L) system is integral to the pathogenesis of acute coronary syndrome (ACS).
  • Investigating genetic variations in CD40 may elucidate susceptibility to ACS.

Purpose of the Study:

  • To determine the association between a specific CD40 gene single nucleotide polymorphism (-1C/T) and ACS.
  • To examine the relationship between this CD40 polymorphism and CD40 expression levels.

Main Methods:

  • Genotyping of the CD40 (-1C/T) SNP using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing.
  • Quantification of CD40 expression on platelets via flow cytometry.
  • Comparative analysis of genotype and allele frequencies in ACS patients, stable angina (SA) patients, and healthy controls.

Main Results:

  • The CC genotype and C allele of the CD40 gene were significantly more frequent in ACS patients compared to SA and control groups (P < 0.001).
  • The C allele was associated with an increased risk of ACS (OR = 1.841-1.877).
  • Platelet CD40 expression was significantly higher in C-allele carriers across all groups.

Conclusions:

  • The CD40 gene (-1C/T) polymorphism is associated with an elevated risk of ACS in the Chinese population.
  • Individuals carrying the -1C allele demonstrate higher CD40 expression, correlating with increased ACS susceptibility.

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